Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and immunological features of fifteen cases of cryptogenic pulmonary eosinophilia are reported. There were ten women (mean age 35.4 years) and five men (mean age 42 years). Eight gave a previous history of asthma and seven had none. Thirteen of the fifteen patients had negative skin test to common allergens. Many features of a systemic illness were present in the asthmatic and non-asthmatic groups including anaemia, weight loss, fever and a grossly raised ESR. An absolute polymorphonuclear leucocytosis was frequent as well as the obligatory increase in blood eosinophils used as one of our criteria for inclusion. Hepatomegaly (three cases), splenomegaly (four cases) and hilar node enlargement (one case) were seen in the group without asthma. Evidence of renal involvement or necrotizing vasculitis was notably absent and the response to small doses of corticosteroids was dramatic. Immunologically the striking feature was a disproportionate increase in blood eosinophils compared with only minor elevations in the total serum IgE levels. This stands in contrast to patients with bronchopulmonary aspergillosis and helminth infestation. Studies of cytophilic antibodies using histamine liberation after challenge with antibodies to immunoglobulin sub-classes in six patients showed a marked increase in IgG2 and lesser increases of IgE and IgG3. No evidence of antibodies specific to A. fumigatus was found. The amount of cytophilic antibody was also in contrast to that found in bronchopulmonary aspergillosis.
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PMID:Cryptogenic pulmonary eosinophilia. 5 41

The prognosis of the hypereosinophilic syndrome (HS) depends mainly on the development of endomyocardial fibrosis (EMF). This complication may be overlooked at an early stage, although its presence is an indication for steroid or antimitotic therapy of the HS. Even at an advanced EMF and associated intracardiac thrombi may not be visualised by angiography. This study was undertaken to assess the diagnostic value of 2D echocardiography in 12 patients. The patients were all men (12 of them) aged 22 to 64 years with unexplained eosinophilia 1 500/mm3 for over 6 months, and visceral lesions. The patients were divided into 3 clinical groups. Group A comprised 4 "allergic" patients with chronic asthma and a significant elevation of IgE; Group B comprised 5 "myeloproliferative" patients with splenomegaly and/or hepatomegaly and a significant elevation of serum B12 levels. The 3 remaining patients who could not be allocated to either Group A or B formed the third group (Group C). 2D echocardiography was carried out on average 30 months after diagnosis of the HS and six planes of examination were used systematically (two parasternal, two apical, one extreme apical and one subcostal). Right and left ventriculography was performed in 6 patients (less than one month before or after 2D-echo). Anatomical studies were obtained in 4 cases (2 operations, 3 autopsies). Echocardiographic signs of EMF were observed in 8 cases. Four patients had a restrictive cardiopathy associated to a large LV thrombus in 2 cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cardiac manifestations of the hypereosinophilic syndrome. The value of 2-dimensional echography (12 cases)]. 643 27

During a 16-month period children presenting to a pediatric outpatient facility from an area with a high tuberculosis incidence (> 400/100,000) and suspected of having respiratory tuberculosis (TB) were evaluated for close contact with adult pulmonary tuberculosis, weight loss, symptom duration, respiratory signs, lymphadenopathy and hepatosplenomegaly and by chest radiography and tuberculin testing (Mantoux or tine). Probable tuberculosis was diagnosed in 258 children and was confirmed in 109 (42%) patients with a mean age of 31 months by culture of Mycobacterium tuberculosis from gastric aspirate or another source. Eleven children with confirmed TB had a normal chest radiograph. After review of special investigations, clinical course and follow-up of the remaining 149 children, 86 children (58%) with a mean age of 32.4 months were considered to have probable TB and 63 (42%) with a mean age of 27 months not to have TB. Significantly fewer children in the "not TB" group than in the confirmed and probable TB groups had a close adult pulmonary tuberculosis contact (13 (21%) and 95 (49%), respectively; P < 0.01). There was no difference between the "not TB" group and the confirmed and probable TB groups in the proportion presenting with weight loss, cough or other respiratory symptoms, a symptom duration > 2 weeks, the presence of bronchial breathing, wheeze, hepatomegaly or splenomegaly or peripheral lymphadenopathy. Final diagnoses in the "not TB" group included bacterial or viral pneumonia or bronchopneumonia in 37, asthma often accompanied by segmental collapse in 9 and cavitating pneumonia in 3 children.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Respiratory tuberculosis in childhood: the diagnostic value of clinical features and special investigations. 776 Nov 83

We report a child with T cell acute lymphoblastic leukemia who developed late-onset multiple complications after allogeneic bone marrow transplantation from an HLA-matched sibling. The preparative regimen consisted of total body irradiation (TBI, 12 Gy), splenic irradiation (6 Gy) and cytosine arabinoside (3 g/m2 x 10). Splenic irradiation was added because of persistent splenomegaly in spite of intensive chemotherapy. He developed bronchial asthma 1 1/2 years post transplant. He presented with microhematuria and proteinuria 4 1/2 years post-transplant, which were due to unilateral left renal dysfunction. He developed type II, non-insulin-dependent diabetes mellitus 8 years post-transplant. A biopsy from the left kidney was not compatible with diabetic nephropathy. All these complications appear to be independently related to BMT, particularly TBI and/or splenic irradiation.
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PMID:Late-onset unilateral renal dysfunction combined with non-insulin-dependent diabetes mellitus and bronchial asthma following allogeneic bone marrow transplantation for acute lymphoblastic leukemia in a child. 982 23

Chronic urticaria is a common clinical disorder that is idiopathic in over 75% of cases. Less commonly, urticaria may be the presenting manifestation of an allergic or infectious disease, endocrinopathy, inherited syndrome, or autoimmune disorder. Rarely, urticaria may be a sign of underlying malignancy, including leukemia. C.C. is a 48-year-old white female who was referred for evaluation of recurrent urticaria for 3 years. The pruritic, erythematous wheals were pinpoint, and appeared to be precipitated by heat, stress, and effort. Prick tests were negative except to D. pteronyssinus. CBCs over the past 5 years revealed WBCs of 2,300-5,000 cells/mm3. Skin biopsy revealed interstitial edema with infiltration of eosinophils and mast cells consistent with urticaria. The impression was probable cholinergic urticaria, for which hydroxyzine was prescribed with fair symptomatic control. One year later, she presented with bright red blood per rectum. Repeat physical examination revealed lymphadenopathy and splenomegaly. Subsequent laboratory studies showed pancytopenia. Endoscopy was normal except for small, nonbleeding hemorrhoids. Bone marrow biopsy revealed histologic evidence of hair, cell leukemia that was treated with 2-chlorodeoxyadenosine. Upon initiation of chemotherapy her pruritus and urticaria subsided. Recent CBC revealed Hgb 9.2 g/dL, platelets 290,000 cells/mm3, and WBC 4,100 cells/mm3. Peripheral blood smear showed no hairy cells.
Allergy Asthma Proc
PMID:Chronic urticaria as a presenting sign of hairy cell leukemia. 1007 10

Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now.
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PMID:Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. 1476 Nov 47

The existence of helper-T cell (Th) subsets, types I and II (Th1/Th2), provides a framework for understanding pathological immune responses. We previously reported that a benzoimidazole derivative, M50367, acted directly on naive Th cells to inhibit their differentiation into Th2 cells. Oral treatment with this compound reduced the Th2 response in vivo and suppressed disease progression in a murine model of atopic asthma. In this study, we investigated the effect of M50367 on 2 other murine disease models, such as atopic dermatitis and intradermal tumor-bearing mice, the pathogenesis of which may be related to the Th2 response. NC/Nga mice treated with a repeated application of picryl chloride developed atopic dermatitis-like skin lesions together with IgE hyper-production. M50367 (30 mg/kg) significantly inhibited the IgE hyper-production without affecting the skin lesions. In C57BL/6 mice bearing intradermal B16F10 melanoma, M50367 (30, 100 mg/kg) significantly inhibited splenomegaly and enhanced spontaneous interferon-gamma release from cultured splenocytes in a dose-dependent manner, though its effect on tumor volume was limited. These results suggest that M50367 could reduce the Th2 response (IgE hyper-production) and enhance the Th1 response (splenocytes interferon-gamma production) in these models. In contrast to previous results in the asthma model, its immunomodulation did not lead to the suppression of disease progression, indicating that the pathogenesis of these models might not simply depend on Th2 response.
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PMID:A novel benzoimidazole derivative, M50367, modulates helper T type I/II responses in atopic dermatitis mice and intradermal melanoma-bearing mice. 1563 67

Common variable immunodeficiency (CVID) is a primary immunodeficiency of unknown etiology characterized by low levels of immunoglobulin (Ig)G, failure to make specific antibodies in response to infection or immunization, and variable T-cell abnormalities. Multisystemic granulomatous disease is a well-documented complication of CVID, and its presence is associated with significant morbidity and early mortality. Although the lung is the most common organ system affected, granulomas are also found frequently in other organs, including skin, liver, spleen, and the gastrointestinal tract. Autoimmune disorders are common in these patients, and there appears to be an increased propensity to develop lymphoproliferative disorders. Common physical, radiographic, and laboratory abnormalities in patients with CVID and granulomatous disease include splenomegaly, hilar and mediastinal lymphadenopathy with ground glass or nodular opacities in the lung parenchyma, and reduced T-cell numbers and function. The etiology of granulomatous disease in patients with CVID is unknown, and optimal treatment of granulomatous disease in CVID remains to be established. Further studies are needed to elucidate the underlying etiology of granulomatous lymphoproliferative interstitial lung disease and to delineate appropriate treatments for this disease.
Curr Allergy Asthma Rep 2005 Sep
PMID:Granulomatous disease in common variable immunodeficiency. 1609 Dec 8

We have analysed data from 150 patients initially classified as having CVID. About 10% had laboratory abnormalities suggesting known single gene disorders (eg: hyper-IgM syndrome), and in a few a genetic defect has been confirmed. We have attempted to sub-classify the remaining patients by analysis of their circulating lymphocytes. B lymphocyte markers have been used to estimate the numbers of circulating immature and class switched B cells; there is an association between the presence of high relative numbers of immature circulating B cells, splenomegaly and autoimmune disease. About 25% of CVID patients have a moderate CD4+ T lymphopenia, sometimes with a relative expansion of CD8+ T cells. About 30% of CVID patients have persistent relatively high levels of circulating CD8+ T cells binding immunogenic peptides from EBV or CMV. Many of these patients also have high relative numbers of circulating CD8+ perforin positive T cells, and there is evidence that these cells may be responsible for neutropenia or inflammatory bowel disease in some patients. The clinical spectrum of CVID is diverse, with some patients suffering from few infections, and over 50% have evidence of structural lung damage. About 25% of UK patients have chronic inflammation in various organs, particularly the lungs, liver and spleen, often with granulomatous changes. Steroids are used to treat many of the patients with chronic inflammatory complications, although trials are in progress with anti-TNF agents. The incidence of these inflammatory complications is different between countries, being rare in Sweden. Attempts to correlate clinical phenotypes with the laboratory abnormalities described above have been disappointing, suggesting that unknown genetic factors unrelated to the cause of the immunodeficiency determine the complications; attempts to identify some of these factors will be discussed. Finally a provisional scheme to sub classify CVID patients according to lymphocyte abnormalities will be presented, the purpose being to focus the screening of candidate genes causing CVID to specific subsets of patients.
Iran J Allergy Asthma Immunol 2004 Sep
PMID:Clinical and Immunological Spectrum of Common Variable Immunodeficiency (CVID). 1730

Autoimmune lymphoproliferative syndrome is a disorder of lymphoid system regulation characterized by chronic splenomegaly, lymphadenopathy and autoimmune phenomena especially immune-mediated cytopenias. The hallmark of the disease is the presence in peripheral blood and lymphoid tissue of increased numbers of a normally rare T lymphocyte subset, usually referred to as "double-negative" T cells. Here the authors report a 16-year-old boy when he was first hospitalized for diffuse petechiae, purpura and epistaxis at 9 years of age. One year later,he was readmitted for high fever and recurring cytopenia. On examination several enlarged, nontender lymph nodes involving cervical and submandibular areas and a huge spleen were detected. Lymph node biopsy was performed two times. According to flowcytometry of peripheral blood and immunophenotyping of lymph node tissues which revealed increased numbers of CD3+CD4-CD8- T-lymphocytes autoimmune lymphoproliferative syndrome was suggested for him. Autoimmune lymphoproliferative syndrome should be considered in differential diagnosis of any patient with unexplained Coomb's positive cytopenias, hypergammaglobulinemia, generalized lymphadenopathy and splenomegaly. The confirmation of the diagnosis should be based upon genetic analysis and detection of the affected genes involved in fas pathway.
Iran J Allergy Asthma Immunol 2005 Sep
PMID:Autoimmune lymphoproliferative syndrome; a case report. 1730 39


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